A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7489n152



Internal ID22823192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115387657..115466655hg38UCSC Ensembl
chr5:114723354..114802352hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3878999
hg1978999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3206771, nsv3191109
SamplesNA19238, NA19239, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7489n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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